ClinVar Miner

List of variants in gene PTEN reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 403
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.269T>C (p.Phe90Ser) rs1859965098 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000314.8(PTEN):c.77C>T (p.Thr26Ile) rs786204853 0.00001
NC_000010.10:g.(?_89653180)_(89653844_?)del
NC_000010.10:g.(?_89685260)_(89685324_?)del
NC_000010.10:g.(?_89685260)_(89693018_?)dup
NC_000010.10:g.(?_89711865)_(89712026_?)dup
NC_000010.10:g.(?_89725034)_(89725321_?)del
NC_000010.11:g.(?_87952108)_(87958029_?)del
NC_000010.11:g.87965287del rs2132289111
NM_000314.4(PTEN):c.-380_-378GGC[5]
NM_000314.4:c.(164+1_165-1)_(634+1_635-1)dup
NM_000314.4:c.545_546insALU
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs) rs587776672
NM_000314.6(PTEN):c.866_867insGA (p.Val290Lysfs) rs1564568303
NM_000314.8(PTEN):c.-116dup rs1564801388
NM_000314.8(PTEN):c.-1_22del (p.Met1fs)
NM_000314.8(PTEN):c.-511G>A rs12573787
NM_000314.8(PTEN):c.-60dup rs1564801473
NM_000314.8(PTEN):c.1000_1003dup (p.Arg335fs)
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1004G>A (p.Arg335Gln) rs1085308040
NM_000314.8(PTEN):c.1004_1008del (p.Arg335fs)
NM_000314.8(PTEN):c.1006del (p.Tyr336fs)
NM_000314.8(PTEN):c.100G>C (p.Ala34Pro) rs1589617199
NM_000314.8(PTEN):c.1021T>G (p.Phe341Val) rs1554825652
NM_000314.8(PTEN):c.1023del (p.Phe341fs) rs1564568689
NM_000314.8(PTEN):c.1026+1G>A rs786201041
NM_000314.8(PTEN):c.1026+1G>T rs786201041
NM_000314.8(PTEN):c.1026+1_1026+2delinsTC
NM_000314.8(PTEN):c.1026+1del rs398123313
NM_000314.8(PTEN):c.1026+2T>A
NM_000314.8(PTEN):c.1026+2T>C
NM_000314.8(PTEN):c.1026+2T>G rs1114167624
NM_000314.8(PTEN):c.1026+2_1026+19delinsG
NM_000314.8(PTEN):c.1026G>T (p.Lys342Asn) rs398123314
NM_000314.8(PTEN):c.1027-11_1028del
NM_000314.8(PTEN):c.1027-1852A>G
NM_000314.8(PTEN):c.1027-1G>A rs1057517809
NM_000314.8(PTEN):c.1027-1G>C rs1057517809
NM_000314.8(PTEN):c.1027-1G>T
NM_000314.8(PTEN):c.1027-29_1029del
NM_000314.8(PTEN):c.1027-2A>G rs1085308041
NM_000314.8(PTEN):c.1027-2A>T rs1085308041
NM_000314.8(PTEN):c.1027-4_1027-2delinsGTC
NM_000314.8(PTEN):c.1027G>T (p.Val343Leu)
NM_000314.8(PTEN):c.1029_1039del (p.Lys344fs) rs1064796236
NM_000314.8(PTEN):c.1034T>C (p.Leu345Pro) rs1554826024
NM_000314.8(PTEN):c.1034T>G (p.Leu345Arg) rs1554826024
NM_000314.8(PTEN):c.103A>C (p.Met35Leu) rs876659443
NM_000314.8(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.8(PTEN):c.103dup (p.Met35fs) rs2132187278
NM_000314.8(PTEN):c.104T>C (p.Met35Thr) rs121909225
NM_000314.8(PTEN):c.104T>G (p.Met35Arg) rs121909225
NM_000314.8(PTEN):c.105G>A (p.Met35Ile) rs1554893782
NM_000314.8(PTEN):c.105_106delinsAC (p.Met35_Gly36delinsIleArg) rs786202517
NM_000314.8(PTEN):c.105_106delinsTC (p.Met35_Gly36delinsIleArg)
NM_000314.8(PTEN):c.106G>A (p.Gly36Arg) rs786204854
NM_000314.8(PTEN):c.106G>C (p.Gly36Arg) rs786204854
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu) rs1554893792
NM_000314.8(PTEN):c.10A>G (p.Ile4Val)
NM_000314.8(PTEN):c.1103del (p.Asp368fs)
NM_000314.8(PTEN):c.1116_1119del (p.Glu373fs) rs1554826049
NM_000314.8(PTEN):c.1127_1128insAT (p.His376fs) rs1554826052
NM_000314.8(PTEN):c.112C>T (p.Pro38Ser) rs587780004
NM_000314.8(PTEN):c.1133_1136del (p.Arg378fs) rs1064794878
NM_000314.8(PTEN):c.1137T>G (p.Tyr379Ter) rs1295420243
NM_000314.8(PTEN):c.1137_1140del (p.Arg378_Tyr379insTer) rs2132289978
NM_000314.8(PTEN):c.1139del (p.Ser380fs) rs2132289992
NM_000314.8(PTEN):c.1168G>T (p.Glu390Ter) rs2132290171
NM_000314.8(PTEN):c.1211G>C (p.Ter404Ser)
NM_000314.8(PTEN):c.1212A>G (p.Ter404Trp) rs876660879
NM_000314.8(PTEN):c.1212A>T (p.Ter404Cys) rs876660879
NM_000314.8(PTEN):c.126_164+5del
NM_000314.8(PTEN):c.136T>C (p.Tyr46His) rs1064793325
NM_000314.8(PTEN):c.13_14insC (p.Ile5fs) rs2132145444
NM_000314.8(PTEN):c.140G>A (p.Arg47Lys) rs1057518425
NM_000314.8(PTEN):c.144C>A (p.Asn48Lys) rs762518389
NM_000314.8(PTEN):c.144C>G (p.Asn48Lys) rs762518389
NM_000314.8(PTEN):c.149T>C (p.Ile50Thr) rs1554893824
NM_000314.8(PTEN):c.152ATG[1] (p.Asp52del) rs1589617371
NM_000314.8(PTEN):c.154_164+1delinsAATATTGTTAATAA
NM_000314.8(PTEN):c.156_164+4delinsCAT
NM_000314.8(PTEN):c.157GTA[1] (p.Val54del) rs1554893831
NM_000314.8(PTEN):c.158T>C (p.Val53Ala) rs786203375
NM_000314.8(PTEN):c.165-17_165del rs1554897240
NM_000314.8(PTEN):c.165-1G>A rs786203847
NM_000314.8(PTEN):c.165-1G>C rs786203847
NM_000314.8(PTEN):c.165-36_195del
NM_000314.8(PTEN):c.165-9T>A rs878853934
NM_000314.8(PTEN):c.165-9_170del rs1859801386
NM_000314.8(PTEN):c.16A>G (p.Lys6Glu) rs1589596143
NM_000314.8(PTEN):c.170T>C (p.Leu57Ser)
NM_000314.8(PTEN):c.170T>G (p.Leu57Trp) rs786202398
NM_000314.8(PTEN):c.181C>G (p.His61Asp) rs121909236
NM_000314.8(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.8(PTEN):c.187_209+4del
NM_000314.8(PTEN):c.194_209+28del
NM_000314.8(PTEN):c.196A>G (p.Lys66Glu)
NM_000314.8(PTEN):c.196A>T (p.Lys66Ter) rs1554897271
NM_000314.8(PTEN):c.1A>G (p.Met1Val) rs1554890324
NM_000314.8(PTEN):c.200T>G (p.Ile67Arg)
NM_000314.8(PTEN):c.202T>A (p.Tyr68Asn) rs398123317
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.8(PTEN):c.202T>G (p.Tyr68Asp) rs398123317
NM_000314.8(PTEN):c.203A>C (p.Tyr68Ser) rs876660634
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys) rs876660634
NM_000314.8(PTEN):c.209+2047A>G
NM_000314.8(PTEN):c.209+2T>C rs878853937
NM_000314.8(PTEN):c.209+2T>G rs878853937
NM_000314.8(PTEN):c.209+2dup rs1064794925
NM_000314.8(PTEN):c.209+4A>G rs2132232446
NM_000314.8(PTEN):c.209+4_209+7del rs398123318
NM_000314.8(PTEN):c.209+5G>T rs1114167650
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro) rs121909226
NM_000314.8(PTEN):c.210-12C>G
NM_000314.8(PTEN):c.210-1G>A rs1114167621
NM_000314.8(PTEN):c.210-1G>C rs1114167621
NM_000314.8(PTEN):c.210-1G>T rs1114167621
NM_000314.8(PTEN):c.210-27_223delinsATCTTATTAACTTATTATAACTTATTATGACTTATTATAACTT
NM_000314.8(PTEN):c.210-2A>C rs1564828914
NM_000314.8(PTEN):c.210-2A>G rs1564828914
NM_000314.8(PTEN):c.210-6_210-2del rs1564828909
NM_000314.8(PTEN):c.210-7_220del
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr) rs1554897856
NM_000314.8(PTEN):c.226del (p.Tyr76fs) rs1564828960
NM_000314.8(PTEN):c.242T>G (p.Phe81Cys) rs876661177
NM_000314.8(PTEN):c.253+1dup rs876660082
NM_000314.8(PTEN):c.253+5G>A rs1554897889
NM_000314.8(PTEN):c.253+5G>C rs1554897889
NM_000314.8(PTEN):c.253+5G>T rs1554897889
NM_000314.8(PTEN):c.253+5_253+13del
NM_000314.8(PTEN):c.254-19_326del
NM_000314.8(PTEN):c.254-1G>A rs1057520208
NM_000314.8(PTEN):c.254-1del rs2132241961
NM_000314.8(PTEN):c.259C>T (p.Gln87Ter) rs1554898053
NM_000314.8(PTEN):c.263_264del (p.Tyr88fs) rs1859964600
NM_000314.8(PTEN):c.270dup (p.Glu91Ter) rs1114167678
NM_000314.8(PTEN):c.271_279del (p.Glu91_His93del)
NM_000314.8(PTEN):c.274G>T (p.Asp92Tyr) rs1554898067
NM_000314.8(PTEN):c.275A>C (p.Asp92Ala) rs1114167623
NM_000314.8(PTEN):c.275A>G (p.Asp92Gly) rs1114167623
NM_000314.8(PTEN):c.275A>T (p.Asp92Val)
NM_000314.8(PTEN):c.276C>G (p.Asp92Glu) rs779530981
NM_000314.8(PTEN):c.277C>A (p.His93Asn) rs786204927
NM_000314.8(PTEN):c.277C>G (p.His93Asp) rs786204927
NM_000314.8(PTEN):c.277C>T (p.His93Tyr) rs786204927
NM_000314.8(PTEN):c.278A>C (p.His93Pro) rs121909238
NM_000314.8(PTEN):c.278A>G (p.His93Arg) rs121909238
NM_000314.8(PTEN):c.278_322del (p.His93_Asp107del)
NM_000314.8(PTEN):c.283C>A (p.Pro95Thr) rs1114167630
NM_000314.8(PTEN):c.283C>G (p.Pro95Ala)
NM_000314.8(PTEN):c.283C>T (p.Pro95Ser) rs1114167630
NM_000314.8(PTEN):c.284C>T (p.Pro95Leu) rs786204856
NM_000314.8(PTEN):c.287C>A (p.Pro96Gln) rs1554898074
NM_000314.8(PTEN):c.287C>G (p.Pro96Arg) rs1554898074
NM_000314.8(PTEN):c.287C>T (p.Pro96Leu) rs1554898074
NM_000314.8(PTEN):c.293T>G (p.Leu98Arg) rs781647403
NM_000314.8(PTEN):c.296_297insTA (p.Glu99fs)
NM_000314.8(PTEN):c.298C>T (p.Leu100Phe) rs1589646100
NM_000314.8(PTEN):c.2T>G (p.Met1Arg)
NM_000314.8(PTEN):c.300dup (p.Ile101fs) rs1554898083
NM_000314.8(PTEN):c.302T>A (p.Ile101Asn) rs1339631701
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr) rs1339631701
NM_000314.8(PTEN):c.304_308dup (p.Phe104fs) rs1554898085
NM_000314.8(PTEN):c.308_309del (p.Pro103fs) rs1554898088
NM_000314.8(PTEN):c.309del (p.Cys105fs) rs1554898088
NM_000314.8(PTEN):c.313T>C (p.Cys105Arg)
NM_000314.8(PTEN):c.313T>G (p.Cys105Gly)
NM_000314.8(PTEN):c.314G>A (p.Cys105Tyr) rs587782343
NM_000314.8(PTEN):c.319G>T (p.Asp107Tyr) rs57374291
NM_000314.8(PTEN):c.320A>G (p.Asp107Gly) rs786204858
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000314.8(PTEN):c.331T>C (p.Trp111Arg) rs398123321
NM_000314.8(PTEN):c.334C>G (p.Leu112Val) rs2132242699
NM_000314.8(PTEN):c.335T>A (p.Leu112Gln)
NM_000314.8(PTEN):c.344A>G (p.Asp115Gly) rs869312775
NM_000314.8(PTEN):c.353A>C (p.His118Pro)
NM_000314.8(PTEN):c.353_354insGA (p.His118fs)
NM_000314.8(PTEN):c.355G>C (p.Val119Leu) rs139767111
NM_000314.8(PTEN):c.355G>T (p.Val119Phe) rs139767111
NM_000314.8(PTEN):c.359C>A (p.Ala120Glu) rs1114167647
NM_000314.8(PTEN):c.359del (p.Ala120fs)
NM_000314.8(PTEN):c.35A>T (p.Asn12Ile) rs1085308044
NM_000314.8(PTEN):c.361G>A (p.Ala121Thr)
NM_000314.8(PTEN):c.362C>A (p.Ala121Glu)
NM_000314.8(PTEN):c.365T>G (p.Ile122Ser) rs1589646321
NM_000314.8(PTEN):c.367C>G (p.His123Asp) rs786204931
NM_000314.8(PTEN):c.367C>T (p.His123Tyr) rs786204931
NM_000314.8(PTEN):c.369C>G (p.His123Gln) rs1085308045
NM_000314.8(PTEN):c.370T>A (p.Cys124Ser) rs121909223
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg) rs121909223
NM_000314.8(PTEN):c.370T>G (p.Cys124Gly) rs121909223
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr) rs876660535
NM_000314.8(PTEN):c.371G>C (p.Cys124Ser)
NM_000314.8(PTEN):c.372T>G (p.Cys124Trp)
NM_000314.8(PTEN):c.373A>G (p.Lys125Glu) rs1554898127
NM_000314.8(PTEN):c.374A>G (p.Lys125Arg)
NM_000314.8(PTEN):c.376G>A (p.Ala126Thr) rs1554898129
NM_000314.8(PTEN):c.376G>C (p.Ala126Pro) rs1554898129
NM_000314.8(PTEN):c.377C>A (p.Ala126Asp)
NM_000314.8(PTEN):c.377C>T (p.Ala126Val) rs1114167656
NM_000314.8(PTEN):c.379G>A (p.Gly127Arg) rs587781255
NM_000314.8(PTEN):c.379G>C (p.Gly127Arg)
NM_000314.8(PTEN):c.37A>C (p.Lys13Gln) rs1554890348
NM_000314.8(PTEN):c.37A>G (p.Lys13Glu) rs1554890348
NM_000314.8(PTEN):c.380G>A (p.Gly127Glu) rs398123322
NM_000314.8(PTEN):c.382A>G (p.Lys128Glu) rs1554898138
NM_000314.8(PTEN):c.384G>C (p.Lys128Asn) rs1114167645
NM_000314.8(PTEN):c.385G>A (p.Gly129Arg) rs786204929
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu) rs121909218
NM_000314.8(PTEN):c.386G>T (p.Gly129Val) rs121909218
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000314.8(PTEN):c.394G>A (p.Gly132Ser) rs1859977029
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.8(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.8(PTEN):c.39_40del (p.Arg14fs) rs587776671
NM_000314.8(PTEN):c.39_41del (p.Arg15del) rs1114167625
NM_000314.8(PTEN):c.3_27del (p.Met1fs) rs2132145338
NM_000314.8(PTEN):c.401T>C (p.Met134Thr) rs1085308046
NM_000314.8(PTEN):c.401T>G (p.Met134Arg) rs1085308046
NM_000314.8(PTEN):c.402G>C (p.Met134Ile) rs1114167676
NM_000314.8(PTEN):c.402G>T (p.Met134Ile) rs1114167676
NM_000314.8(PTEN):c.403A>G (p.Ile135Val) rs587782360
NM_000314.8(PTEN):c.404T>A (p.Ile135Lys) rs370795352
NM_000314.8(PTEN):c.404T>C (p.Ile135Thr) rs370795352
NM_000314.8(PTEN):c.405A>G (p.Ile135Met)
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000314.8(PTEN):c.407G>A (p.Cys136Tyr) rs786204859
NM_000314.8(PTEN):c.408T>G (p.Cys136Trp) rs869312776
NM_000314.8(PTEN):c.40A>G (p.Arg14Gly) rs1085308047
NM_000314.8(PTEN):c.422A>C (p.His141Pro) rs863224666
NM_000314.8(PTEN):c.422A>G (p.His141Arg) rs863224666
NM_000314.8(PTEN):c.422A>T (p.His141Leu)
NM_000314.8(PTEN):c.423del (p.Arg142fs) rs1859979785
NM_000314.8(PTEN):c.424C>T (p.Arg142Trp) rs746152219
NM_000314.8(PTEN):c.430A>T (p.Lys144Ter) rs1057520622
NM_000314.8(PTEN):c.441_442delinsA (p.Ala148fs) rs1114167641
NM_000314.8(PTEN):c.449A>G (p.Glu150Gly) rs1554898193
NM_000314.8(PTEN):c.44G>A (p.Arg15Lys) rs398123324
NM_000314.8(PTEN):c.44G>C (p.Arg15Thr) rs398123324
NM_000314.8(PTEN):c.45A>C (p.Arg15Ser) rs1064794096
NM_000314.8(PTEN):c.45A>T (p.Arg15Ser) rs1064794096
NM_000314.8(PTEN):c.461T>G (p.Phe154Cys) rs1313989099
NM_000314.8(PTEN):c.461_492+7del
NM_000314.8(PTEN):c.463T>A (p.Tyr155Asn) rs398123325
NM_000314.8(PTEN):c.463T>C (p.Tyr155His) rs398123325
NM_000314.8(PTEN):c.464A>C (p.Tyr155Ser) rs1060500126
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.46T>C (p.Tyr16His) rs1064796078
NM_000314.8(PTEN):c.46T>G (p.Tyr16Asp) rs1064796078
NM_000314.8(PTEN):c.471del (p.Glu157_Val158insTer)
NM_000314.8(PTEN):c.473_476dup (p.Arg159fs)
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly) rs786202688
NM_000314.8(PTEN):c.476G>A (p.Arg159Lys) rs1114167673
NM_000314.8(PTEN):c.476G>T (p.Arg159Met) rs1114167673
NM_000314.8(PTEN):c.477G>T (p.Arg159Ser) rs1057519724
NM_000314.8(PTEN):c.479C>T (p.Thr160Ile) rs1554898225
NM_000314.8(PTEN):c.486C>G (p.Asp162Glu) rs869312777
NM_000314.8(PTEN):c.487A>T (p.Lys163Ter) rs1554898235
NM_000314.8(PTEN):c.490_491del (p.Lys164fs) rs786204900
NM_000314.8(PTEN):c.492+1G>A rs1554898242
NM_000314.8(PTEN):c.492+1G>T rs1554898242
NM_000314.8(PTEN):c.492+1_492+5del rs1554898238
NM_000314.8(PTEN):c.492+2T>G rs1554898244
NM_000314.8(PTEN):c.492+2del rs1060500124
NM_000314.8(PTEN):c.492_492+1delinsA
NM_000314.8(PTEN):c.493-1G>C rs786204862
NM_000314.8(PTEN):c.493-1G>T rs786204862
NM_000314.8(PTEN):c.493-2A>C rs587781784
NM_000314.8(PTEN):c.493-2A>G rs587781784
NM_000314.8(PTEN):c.493-2A>T rs587781784
NM_000314.8(PTEN):c.493G>A (p.Gly165Arg) rs587782603
NM_000314.8(PTEN):c.493G>C (p.Gly165Arg) rs587782603
NM_000314.8(PTEN):c.497T>A (p.Val166Glu) rs1554900515
NM_000314.8(PTEN):c.500C>A (p.Thr167Asn) rs397514559
NM_000314.8(PTEN):c.509G>A (p.Ser170Asn) rs876660507
NM_000314.8(PTEN):c.509G>T (p.Ser170Ile) rs876660507
NM_000314.8(PTEN):c.50_79+23del
NM_000314.8(PTEN):c.511C>G (p.Gln171Glu) rs786204864
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg) rs786204865
NM_000314.8(PTEN):c.518G>C (p.Arg173Pro) rs121913294
NM_000314.8(PTEN):c.518G>T (p.Arg173Leu) rs121913294
NM_000314.8(PTEN):c.520T>A (p.Tyr174Asn) rs587782316
NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.8(PTEN):c.522T>G (p.Tyr174Ter) rs786201867
NM_000314.8(PTEN):c.526TAT[2] (p.Tyr178del) rs587780711
NM_000314.8(PTEN):c.528T>G (p.Tyr176Ter) rs1057522285
NM_000314.8(PTEN):c.529T>C (p.Tyr177His) rs1860418425
NM_000314.8(PTEN):c.529T>G (p.Tyr177Asp) rs1860418425
NM_000314.8(PTEN):c.530A>G (p.Tyr177Cys) rs1564837839
NM_000314.8(PTEN):c.542T>C (p.Leu181Pro) rs1589659492
NM_000314.8(PTEN):c.545_546dup (p.Lys183Ter)
NM_000314.8(PTEN):c.564T>A (p.Tyr188Ter) rs606231170
NM_000314.8(PTEN):c.584T>C (p.Phe195Ser)
NM_000314.8(PTEN):c.592ATG[1] (p.Met199del) rs1064793244
NM_000314.8(PTEN):c.593T>A (p.Met198Lys) rs1554900635
NM_000314.8(PTEN):c.598T>G (p.Phe200Val) rs587782473
NM_000314.8(PTEN):c.599T>C (p.Phe200Ser) rs786204867
NM_000314.8(PTEN):c.59G>T (p.Gly20Val) rs1064795967
NM_000314.8(PTEN):c.610C>G (p.Pro204Ala) rs786204868
NM_000314.8(PTEN):c.634+2_634+3insC rs1554900673
NM_000314.8(PTEN):c.634+3_634+6del rs1589659775
NM_000314.8(PTEN):c.634+5G>C rs138336847
NM_000314.8(PTEN):c.634+5G>T rs138336847
NM_000314.8(PTEN):c.635-1G>A rs876661024
NM_000314.8(PTEN):c.635-1G>C rs876661024
NM_000314.8(PTEN):c.635-1G>T rs876661024
NM_000314.8(PTEN):c.635-2A>G rs1564566706
NM_000314.8(PTEN):c.635-32_643del
NM_000314.8(PTEN):c.635-33_653del
NM_000314.8(PTEN):c.635-3C>G rs1085308056
NM_000314.8(PTEN):c.64G>C (p.Asp22His) rs876660420
NM_000314.8(PTEN):c.661A>G (p.Lys221Glu)
NM_000314.8(PTEN):c.673del (p.Tyr225fs) rs1589663253
NM_000314.8(PTEN):c.67T>G (p.Leu23Val) rs876661244
NM_000314.8(PTEN):c.696del (p.Arg233fs) rs587776669
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.698G>A (p.Arg233Gln) rs770025422
NM_000314.8(PTEN):c.69_74del (p.22DL[1])
NM_000314.8(PTEN):c.700C>T (p.Arg234Trp) rs786201730
NM_000314.8(PTEN):c.702_703delinsC (p.Glu235fs) rs1131691831
NM_000314.8(PTEN):c.703del (p.Glu235fs)
NM_000314.8(PTEN):c.70G>A (p.Asp24Asn) rs786201995
NM_000314.8(PTEN):c.70G>C (p.Asp24His) rs786201995
NM_000314.8(PTEN):c.711_722del (p.Lys237_Phe241delinsAsn)
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly) rs797044910
NM_000314.8(PTEN):c.71A>T (p.Asp24Val) rs797044910
NM_000314.8(PTEN):c.721T>C (p.Phe241Leu) rs1554825207
NM_000314.8(PTEN):c.721_786del (p.Phe241_Asn262del)
NM_000314.8(PTEN):c.722T>C (p.Phe241Ser) rs121909240
NM_000314.8(PTEN):c.723T>G (p.Phe241Leu) rs17849090
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.738_743del (p.Leu247_Pro248del) rs1114167666
NM_000314.8(PTEN):c.738del (p.Leu247fs)
NM_000314.8(PTEN):c.739_740insAT (p.Leu247fs) rs786204902
NM_000314.8(PTEN):c.740T>C (p.Leu247Ser) rs1057519368
NM_000314.8(PTEN):c.746T>G (p.Val249Gly) rs2132277407
NM_000314.8(PTEN):c.750_751del (p.Cys250fs) rs780264945
NM_000314.8(PTEN):c.752G>A (p.Gly251Asp) rs1554825226
NM_000314.8(PTEN):c.752G>T (p.Gly251Val) rs1554825226
NM_000314.8(PTEN):c.752_753delinsTG (p.Gly251Val) rs1114167664
NM_000314.8(PTEN):c.755A>G (p.Asp252Gly) rs121909239
NM_000314.8(PTEN):c.755A>T (p.Asp252Val) rs121909239
NM_000314.8(PTEN):c.761A>C (p.Lys254Thr) rs1114167633
NM_000314.8(PTEN):c.761_765del (p.Lys254fs) rs606231169
NM_000314.8(PTEN):c.764T>A (p.Val255Glu) rs1564566998
NM_000314.8(PTEN):c.765_766insTTC (p.Val255_Glu256insPhe) rs2132277565
NM_000314.8(PTEN):c.77C>A (p.Thr26Asn) rs786204853
NM_000314.8(PTEN):c.781C>T (p.Gln261Ter) rs730882131
NM_000314.8(PTEN):c.79+1G>A
NM_000314.8(PTEN):c.79+1G>C rs2132146122
NM_000314.8(PTEN):c.796A>G (p.Lys266Glu)
NM_000314.8(PTEN):c.80-1G>C rs786204914
NM_000314.8(PTEN):c.80-1_80del rs1554893747
NM_000314.8(PTEN):c.80-2A>C rs2132187034
NM_000314.8(PTEN):c.80-5_82del rs1589617114
NM_000314.8(PTEN):c.801+1G>A rs786204873
NM_000314.8(PTEN):c.801+1del rs1060500110
NM_000314.8(PTEN):c.801G>T (p.Lys267Asn) rs1554825266
NM_000314.8(PTEN):c.802-1G>A rs1257124719
NM_000314.8(PTEN):c.802-2_816del
NM_000314.8(PTEN):c.802-2del rs886047397
NM_000314.8(PTEN):c.802-37_815del
NM_000314.8(PTEN):c.802-4_804delinsA rs1064792911
NM_000314.8(PTEN):c.802-54_883del
NM_000314.8(PTEN):c.802-8_839del
NM_000314.8(PTEN):c.808delinsTTT
NM_000314.8(PTEN):c.80A>C (p.Tyr27Ser) rs886041877
NM_000314.8(PTEN):c.80A>G (p.Tyr27Cys) rs886041877
NM_000314.8(PTEN):c.815A>C (p.His272Pro) rs1114167648
NM_000314.8(PTEN):c.826A>G (p.Asn276Asp) rs1589665622
NM_000314.8(PTEN):c.826_829dup (p.Thr277fs)
NM_000314.8(PTEN):c.827A>T (p.Asn276Ile) rs1860618095
NM_000314.8(PTEN):c.830C>G (p.Thr277Arg) rs398123329
NM_000314.8(PTEN):c.830C>T (p.Thr277Ile) rs398123329
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter) rs863224909
NM_000314.8(PTEN):c.865_866insCT (p.Lys289fs) rs1554825530
NM_000314.8(PTEN):c.884_900delinsG (p.Leu295fs) rs1114167680
NM_000314.8(PTEN):c.885_886del (p.Leu295_Cys296insTer) rs1564568350
NM_000314.8(PTEN):c.888T>A (p.Cys296Ter) rs1589665853
NM_000314.8(PTEN):c.898del (p.Ile300fs) rs2132282499
NM_000314.8(PTEN):c.916dup (p.Ile306fs) rs1860625934
NM_000314.8(PTEN):c.91A>G (p.Asn31Asp) rs1859093459
NM_000314.8(PTEN):c.929A>G (p.Asp310Gly) rs1564568473
NM_000314.8(PTEN):c.944_945del (p.Tyr315fs) rs1064796128
NM_000314.8(PTEN):c.946_947del (p.Leu316fs) rs1860627982
NM_000314.8(PTEN):c.947T>C (p.Leu316Pro) rs1064793345
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del) rs1554893765
NM_000314.8(PTEN):c.959T>C (p.Leu320Ser) rs1114167667
NM_000314.8(PTEN):c.959dup (p.Leu320fs)
NM_000314.8(PTEN):c.964A>T (p.Lys322Ter) rs786202004
NM_000314.8(PTEN):c.966_996del (p.Asn323fs) rs2132283188
NM_000314.8(PTEN):c.967_968dup (p.Asn323fs) rs121913291
NM_000314.8(PTEN):c.968dup (p.Asn323fs) rs121913291
NM_000314.8(PTEN):c.975_988delinsCGCTT (p.Asp326_Lys330delinsAlaTer) rs1114167640
NM_000314.8(PTEN):c.977A>G (p.Asp326Gly) rs1860631246
NM_000314.8(PTEN):c.98T>C (p.Ile33Thr) rs1554893771

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.